Canonical Allele Identifier: CA1108410377
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-147571389-A-G
gnomAD v4: 7-147571389-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571389A>G , CM000669.2:g.147571389A>G GRCh38
NC_000007.13:g.147268481A>G , CM000669.1:g.147268481A>G GRCh37
NC_000007.12:g.146899414A>G NCBI36
NG_007092.2:g.1460029A>G
NG_007092.3:g.1460389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9132A>G MANE Select ENSP00000354778.3:n.1897+9132A>G
ENST00000636870.1:n.1759+9132A>G
ENST00000637825.1:n.1380+9132A>G
ENST00000638117.1:n.1800+9132A>G
ENST00000361727.7:c.1897+9132A>G ENSP00000354778.3:n.1897+9132A>G
NM_014141.5:c.1897+9132A>G NP_054860.1:n.1897+9132A>G
XM_006715919.1:c.385+9132A>G XP_006715982.1:n.385+9132A>G
XM_017011950.2:c.1897+9132A>G XP_016867439.1:n.1897+9132A>G
NM_014141.6:c.1897+9132A>G MANE Select NP_054860.1:n.1897+9132A>G
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